Thrombophylic Profile of Fabry Patients in Argentina.

Anderson-Fabry disease (AFD), described independently in the 1890s by William Anderson and Johann Fabry, is the second most frequent lysosomal storage disorder (after Gaucher disease). AFD is a pan-ethnic disorder due to a deficiency of the lysosomal enzime alpha-galactosidase A (alpha-GAL), with an estimated frequency of 1 in 117,000 male births, although recent studies suggest that the incidence may be underestimated, as certain patients with residual alpha-GAL activity (5 to 35% of normal levels) have disease too. Increased incidence of thrombotic events has been demonstrated in AFD. We evaluated the prevalence of prothrombotic risk factors in Argentine patients. Patients/methods: 36 patients (15 hemizygous and 21 heterozygous from 3 families) were studied for: protein C pathway (PCSys), antithrombin (AT), protein C (PC), protein S (PS), activated protein C resistance (APCR), lupus anticoagulant (LA), total plasma homocysteine (tHcy), anticardiolipin antibodies (ACA), and antiphosphatidylserine antibodies (APA). Results: The evaluation of PCSys, APCR, plasmatic levels of PC, PS, AT and APA were normal in all patients. Elevated levels of tHcy were found in 19.4% (n=7). Positive for LA were 38.9% (n=14) and for ACA 8.3% (n=3). Conclusions: 1) Our results confirm data from the literature reporting elevated homocysteinemia in AFD patients. Nutritional deficiencies, renal failure and metabolic disturbances are probable etiologic factors. 2) Thrombophilia was more frequent in hemizygous (13 patients, 86.7%) than in heterozygous (8 patients, 38.1%). Four hemizygous patients showed coexistence of two risk factors. 3) We found an unexpected high incidence of procoagulant autoantibodies. This association has also been reported and might contribute to thrombophilia in AFD: as in Gaucher disease, the accumulation of immunogenic glucocerebrosides might induce chronic immunostimulation.